Genetic Syndromes Flashcards
What genetic syndrome is characterized by chromosome 4 deficits?
Achondroplasia
Symptoms include short stature, disproportionate limb shortening, large head, delayed motor development, frequent ear infections, and hypotonia.
What is the average life expectancy for individuals with Achondroplasia?
Approximately 10 years less than individuals without Achondroplasia.
What are some signs and symptoms of Angelman’s Syndrome?
Developmental delay, severe speech impairments, ataxia, low tone, epilepsy, microcephaly, inability to ambulate until age 3, seizures, happy demeanor, hyperactivity, fascination with water
Also known as ‘Happy puppet syndrome’.
What gene is affected in Angelman’s Syndrome?
UBE3A on chromosome 15.
True or False: Individuals with Angelman’s Syndrome have a near normal lifespan.
True.
What is another name for Cri Du Chat syndrome?
Cat Cry Syndrome.
What genetic issue is associated with Cri Du Chat syndrome?
Partial or complete deletion of chromosome 5P.
What percentage of Cri Du Chat cases are paternal in origin?
80-90%.
What is the expected life expectancy for a child with Cri Du Chat syndrome if they reach one year of age?
Most reach up to 50 years.
What are common physical characteristics of Fragile X Syndrome?
Long, narrow face with prominent ears, jaw, and forehead.
What is the genetic cause of Fragile X Syndrome?
Affects the CGG triplet repeat within the FMR1 gene.
What is the prevalence of Fragile X Syndrome in males and females?
1 in 7,000 males and 1 in 11,000 females.
What is the typical life expectancy impact of Klinefelter Syndrome?
Typically live 5-10 years less than a typical adult.
What are common physical characteristics of individuals with Klinefelter Syndrome?
Taller than most, decreased muscle tone/mass, decreased body/facial hair, excess breast tissue.
What genetic disorder is associated with the FBN-1 gene?
Marfan Syndrome.
What is the expected average lifespan for individuals with Marfan Syndrome?
Approximately 70 years.
What are the three types of Neurofibromatosis?
NF1, NF2, SWN.
What is the average life expectancy for an individual diagnosed with NF2?
Predicted to have 10-15 years following the diagnosis.
What genetic disorder is characterized by an autosomal recessive inheritance pattern affecting the PAH gene?
Phenylketonuria.
What is the prevalence of Phenylketonuria?
1 in 25,000 live births.
What are some symptoms associated with Tay-Sachs disease?
Motor weakness, hypersensitivity, exaggerated startle reflex, cherry-red spot in retina, cognitive impairments, dystonia, dysarthria, ataxia, tremor.
What is the expected age of death for individuals with Tay-Sachs disease?
Typically pass away before the age of 5 years old.
What is the chromosomal abnormality associated with Turner Syndrome?
Monosomy 45, X.
What is a common characteristic observed in individuals with Rett Syndrome?
Progressive loss of motor skills, communication, and social abilities.
